Genetic Testing am I over-looking benefits

d.f

We just had a f/u with the Developmental Pedi last week (DS was Dx with PDD-NOS by a psych in July).  She recommended that we do genetic testing for Fragile X and a Chromosomal Array.  She did say she doesn't really expect the test to show anything. But she said if anything is found it'll be good to know if we decide to have more children (unlikely) or when/if DS has kids.  While the Dr recommended it she left it up to us and said it wouldn't directly affect anything we're doing now.

Well insurance was verified and we'll be responsible for 10%.  I'm leaning towards that $500 will be better spent elsewhere right now.  We're not planning on having more children.  DS's is 4 so it's not exactly an imminent concern regarding his progeny.  I think the testing would be really interesting but I'm not really seeing the rush.

Am I overlooking any benefits to having the tests done now?

st.augbride

There's always the argument that if they found something they might be able to better tailor treatments, or if new developments come out in the future therapy or medication-wise for a specific syndrome, then your LO could benefit. That said, there really isn't a rush and it most 'likely' won't change anything major, so if you prefer to wait then I don't see the harm. We ended up doing full genetic testing b/c it was totally covered and just a blood test, so we decided we might as well. The wait for the results was brutal.

realisticdreams

You could always get the order and see if you meet your max out of pocket closer to the end of the year, and you wouldn't have to pay the 10%.  Also the 10% is normally based on what they pay.  Example bill is 500 they allow 250 you pay $25. We just had a SNP microarray done on M yesterday and I'm not 100% sure if H's insurance ever covers it since it's really crappy!

How much did they tell you those tests were?   

lite-bright

Hmm, the nest must've eaten my earlier reply. 

 I was going to say that maybe if there's an underlying genetic condition like Fragile X, perhaps insurance might cover therapies more/differently than with just a spectrum dx.

d.f

Thank you for your responses.

No family history of ID or anything beyond the typical struggling in school.

I like the idea of waiting until the end of the year.  We do have an order in, it's good for three months.  We probably won't quite meet our OOP Max this year.  We'll be closer than we've been since my complicated pregnancy with DS.  Still it's possible we'll meet it if we need any unplanned medical care.  I assume the nurse who through out the $500 number was going off of the contracted rate since she had just spoken to my ins. company but maybe she was using the billed rate.  A lower number might make it more palatable. 

I'll look into seeing if they cover things differently.  I kind of doubt it.  They were very clear on only covering behavioral therapies if there was a danger to self or others.  

FlgBride

We had the FX DNA test and the chromosomal array. The FX DNA test isn't all that expensive. As billed to our insurance companies, my son's test was $373 and mine was $384. The chromosomal array was significantly more.....like $2500.

At the time that we received our FX diagnosis, there was no one else in the family that had been identified as being a carrier. No LDs, nothing. I thought the test was a waste of time. My son is a full mutation male. I've been identified as a carrier (premutation). A few others have been identified as having a  grey zone mutation. Several others are awaiting their results.

One FX associated disorder is FXTAS (fragile x associated tremor ataxia syndrome). It occurs in about 20% of male carriers after the age of 50. Are there any males in your family over the age of 50 with a tremor? My dad and my uncle both have this tremor. It's often mistaken for Parkinson's.

Most of the phenotypic characteristics of males don't appear until after puberty. My son looks like any other 2 year old. His ears are little on the large side, but not unlike many other unaffected individuals in the population at large. Not all FXers possess this quality.

 Feel free to message me if you have any questions.

FlgBride

I also wanted to add that in our state kids with a Fragile X diagnosis don't age out of EI services at the age of 3. They are covered through the Division of Developmental Disabilities. I don't know if your diagnosis of PDD-NOS also does this or not. If not, having the testing done, might be worth your time and money as services cost significantly less or are covered entirely (if your state has more money than ours does).

realisticdreams

d.f:

Thank you for your responses.

No family history of ID or anything beyond the typical struggling in school.

I like the idea of waiting until the end of the year.  We do have an order in, it's good for three months.  We probably won't quite meet our OOP Max this year.  We'll be closer than we've been since my complicated pregnancy with DS.  Still it's possible we'll meet it if we need any unplanned medical care.  I assume the nurse who through out the $500 number was going off of the contracted rate since she had just spoken to my ins. company but maybe she was using the billed rate.  A lower number might make it more palatable. 

I'll look into seeing if they cover things differently.  I kind of doubt it.  They were very clear on only covering behavioral therapies if there was a danger to self or others.   

 

I feel like the $500 may be the contracted billing rate.  Because the micro-array is way more expensive than the regular array.   M had that done + 6 other tests in April and the total was $1200 and we paid $50 that was with a 20% coinsurance.  

I'd check because it's possible you're looking at $50 instead of $500 which would be wayyy better  

ridesbuttons

I don't think I would given your circumstances.  If it comes up in the future when your son is thinking about starting a family, it is reasonable to expect the testing would be more accurate in the future anyway. 

It's not for you to decide in his childhood whether or not he should have kids of his own (came out harsher than I meant, I'll try again).  You don't want to plant the idea in his head that he shouldn't have kids, when he's an adult he can make that decision for himself.

d.f

ridesbuttons:

I don't think I would given your circumstances.  If it comes up in the future when your son is thinking about starting a family, it is reasonable to expect the testing would be more accurate in the future anyway. 

It's not for you to decide in his childhood whether or not he should have kids of his own (came out harsher than I meant, I'll try again).  You don't want to plant the idea in his head that he shouldn't have kids, when he's an adult he can make that decision for himself.

Maybe I came off wrong.  I said when/if because that will be 100% his choice.  If I'm leaning any direction I hope he chooses to have kids.  Being a grandma sounds like an awesome gig.  If testing does show something relevant I'll want him to have that info when he makes his decision.  Since he's 4 there's no immediate need to obtain that info.  My question was more to ask if I'm overlooking other reasons to have the tests done now.

 

 

d.f

realisticdreams:

d.f:

 

I feel like the $500 may be the contracted billing rate.  Because the micro-array is way more expensive than the regular array.   M had that done + 6 other tests in April and the total was $1200 and we paid $50 that was with a 20% coinsurance.  

I'd check because it's possible you're looking at $50 instead of $500 which would be wayyy better  

$50 would be way better but she said the total would be about $5,000.  I think I'll call to check if it's the billed rate the contracted rate is probably 1/3 to 1/2 so it might be worth it to do it now instead of hoping our insurance is better instead of worse in the future. 

Assembly_Reqd

Pros of doing it now:

Its over and done with

You may not have coverage later

If something genetic is found and has other known health consequences such as kidney or heart issues it would be good to know now than later. One of Nate's deletions had about 7 other health things associated with it including kidney and tethered spinal cord. We were able to rule out those issues. 

 

Cons

Genetic testing will only get better and less expensive. Waiting 5-10 years will get you a more sensitive test. There is no reason other than financial that you can't do it now to set your mind at ease and then later to make sure nothing was missed.